Canonical Allele Identifier: CA9756635

Gene: MCM8

Linked Data

• ClinVar Variation Id: 812137
• ClinVar RCV Id: RCV001002743
• dbSNP Id: rs201115244
• ExAC: 20:5948131 C / T
• gnomAD v2: 20-5948131-C-T
• gnomAD v3: 20-5967485-C-T
• gnomAD v4: 20-5967485-C-T
• MyVariant Identifiers: chr20:g.5948131C>T (hg19) ; chr20:g.5967485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5967485C>T , CM000682.2:g.5967485C>T	GRCh38
NC_000020.10:g.5948131C>T , CM000682.1:g.5948131C>T	GRCh37
NC_000020.9:g.5896131C>T	NCBI36
NG_042869.1:g.21834C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000652720.1:c.925C>T	ENSP00000498784.1:p.Arg309Ter
ENST00000265187.4:c.925C>T	ENSP00000265187.4:p.Arg309Ter
ENST00000378883.5:c.925C>T	ENSP00000368161.1:p.Arg309Ter
ENST00000378886.6:c.925C>T	ENSP00000368164.2:p.Arg309Ter
ENST00000378896.7:c.925C>T	ENSP00000368174.3:p.Arg309Ter
ENST00000610722.4:c.925C>T MANE Select	ENSP00000478141.1:p.Arg309Ter
NM_001281520.1:c.925C>T	NP_001268449.1:p.Arg309Ter
NM_001281521.1:c.925C>T	NP_001268450.1:p.Arg309Ter
NM_001281522.1:c.925C>T	NP_001268451.1:p.Arg309Ter
NM_032485.5:c.925C>T	NP_115874.3:p.Arg309Ter
NM_182802.2:c.925C>T	NP_877954.1:p.Arg309Ter
XM_011529387.1:c.925C>T	XP_011527689.1:p.Arg309Ter
XR_937169.1:n.1265C>T
XM_011529387.2:c.925C>T	XP_011527689.1:p.Arg309Ter
XM_017028105.1:c.925C>T	XP_016883594.1:p.Arg309Ter
XM_017028106.1:c.733C>T	XP_016883595.1:p.Arg245Ter
XM_017028107.1:c.76C>T	XP_016883596.1:p.Arg26Ter
XR_001754422.1:n.1265C>T
XR_001754423.1:n.1265C>T
NM_032485.6:c.925C>T MANE Select	NP_115874.3:p.Arg309Ter
NM_182802.3:c.925C>T	NP_877954.1:p.Arg309Ter
NM_001281520.2:c.925C>T	NP_001268449.1:p.Arg309Ter
NM_001281521.2:c.925C>T	NP_001268450.1:p.Arg309Ter
NM_001281522.2:c.925C>T	NP_001268451.1:p.Arg309Ter